Clinical Cytogenetics Flashcards

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1
Q

Nucleosomes

A

fundamental packaging unit of DNA

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2
Q

p arm

A

‘petite,’ short arm

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3
Q

q arm

A

long arm

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4
Q

Giemsa banding

A

analysis

cultured cells arrested in metaphase (treated with colchicine)

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5
Q

metacentric

A

centromere in center

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6
Q

submetacentric

A

short and long arm

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7
Q

acrocentric

A

have ‘very tiny short arms’

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8
Q

centromere stats

A

alphoid DNA repeat unit

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9
Q

telomere stats

A

beta satellite outer, tandem hexanucleotide repeats (5-TTAGGG-3)

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10
Q

what stage does in cell cycle does DNA replication occur?

A

S phase

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11
Q

what happens in G2?

A

cell prepares to undergo mitosis

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12
Q

how many double helix are there beginning of S1?

A

1

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13
Q

when does a cell have two double helices?

A

end of S

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14
Q

when does recombination occur

A

meiosis 1, prophase 1

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15
Q

when does reproduction arrest in female meiosis?

A

prophase 1

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16
Q

what is a disadvantage to FISH and SKY methods?

A

need living cells unlike Array CGH

17
Q

when can nondisjunction occur

A

in meiosis 1 or 2

18
Q

what karyotype is associated with turner

A

45,X

19
Q

what karyotype is associated with klinefelter

A

47,XXY

20
Q

what karyotype is associated with the most common chrom. abnormality?

A

47,XYY

21
Q

what is the normal karyotype

A

46,XY

22
Q

down syndrome karyotype

A

47,XX+21 47,XY+21

23
Q

patau syndrome karyotype

A

47,XX+13 47,XY+13

24
Q

edwards syndrome karyotype

A

47,XX+18 47,XY+18

25
Q

robertsonian translocation

A

acrosonian, fusion of short arms

26
Q

reciprocal translocation

A

exchange of either/or centric and acentric

27
Q

mosaicism

A

nondisjunction that occurs during mitosis